ATP2C1
Identifiers
AliasesATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1
External IDsOMIM: 604384 MGI: 1889008 HomoloGene: 56672 GeneCards: ATP2C1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 130.85 – 131.02 MbChr 9: 105.28 – 105.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.[5][6][7]

This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000017260 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032570 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. (January 2000). "Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease". Nature Genetics. 24 (1): 61–65. doi:10.1038/71701. PMID 10615129. S2CID 41274246.
  6. ^ Sudbrak R, Brown J, Dobson-Stone C, Carter S, Ramser J, White J, et al. (April 2000). "Hailey-Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca(2+) pump". Human Molecular Genetics. 9 (7): 1131–1140. doi:10.1093/hmg/9.7.1131. PMID 10767338.
  7. ^ a b "Entrez Gene: ATP2C1 ATPase, Ca++ transporting, type 2C, member 1".

Further reading